Improvement of Skin Lesions in an Adult with CHILD Syndrome Treated with 2% Ketoconazole Cream

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome, OMIM: #308050) is an X-linked dominant disorder caused by variants in NAD[P]H steroid dehydrogenase-like protein (NSDHL), resulting in the inhibition of cholesterol synthesis (1).There are no established therapies for the skin lesions.We report an adult CHILD syndrome patient who, to our knowledge, was the first to be treated with topical ketoconazole without recurrence during follow-up.